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CHD panel versie V1 (471 genen) Centrum voor Medische Genetica Gent
Gene OMIM gene ID Associated phenotype, OMIM phenotype ID, phenotype mapping
key and inheritance pattern
AATK 605276 No OMIM phenotype
ABL1 189980 Congenital heart defects and skeletal malformations syndrome, 617602 (3), Autosomal dominant; Leukemia, Philadelphia chromosome-positive,
resistant to imatinib (3)
ACAN 155760
Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 (3), Autosomal dominant; ?Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3), Autosomal recessive; Spondyloepiphyseal
dysplasia, Kimberley type, 608361 (3), Autosomal dominant
ACTA1 102610
Myopathy, actin, congenital, with cores, 161800 (3), Autosomal recessive, Autosomal dominant; Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3), Autosomal recessive, Autosomal dominant;
Myopathy, congenital, with fiber-type disproportion 1, 255310 (3), Autosomal recessive, Autosomal dominant; ?Myopathy,
scapulohumeroperoneal, 616852 (3), Autosomal dominant; Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3), Autosomal
recessive, Autosomal dominant
ACTB 102630 Baraitser-Winter syndrome 1, 243310 (3), Autosomal
dominant; ?Dystonia, juvenile-onset, 607371 (3), Autosomal dominant
ACTC1 102540
Atrial septal defect 5, 612794 (3), Autosomal dominant; Cardiomyopathy, dilated, 1R, 613424 (3), Autosomal dominant; Cardiomyopathy,
hypertrophic, 11, 612098 (3), Autosomal dominant; Left ventricular noncompaction 4, 613424 (3), Autosomal dominant
ACTG1 102560 Baraitser-Winter syndrome 2, 614583 (3), Autosomal dominant; Deafness,
autosomal dominant 20/26, 604717 (3), Autosomal dominant
ACTN2 102573 Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3),
Autosomal dominant; Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3), Autosomal dominant
ACVR1 102576 Fibrodysplasia ossificans progressiva, 135100 (3), Autosomal dominant
ACVR1B 601300 Pancreatic cancer, somatic (3)
ACVR2A 102581 No OMIM phenotype
ACVR2B 602730 Heterotaxy, visceral, 4, autosomal, 613751 (3)
ACVRL1 601284 Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3), Autosomal
dominant
ADAMTS10 608990 Weill-Marchesani syndrome 1, recessive, 277600 (3), Autosomal recessive
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ADNP 611386 Helsmoortel-van der Aa syndrome, 615873 (3), Autosomal dominant
AKAP12 No OMIM gene No OMIM phenotype
AKT1 164730
Breast cancer, somatic, 114480 (3); Colorectal cancer, somatic, 114500 (3); Cowden syndrome 6, 615109 (3); Ovarian cancer, somatic, 167000 (3);
Proteus syndrome, somatic, 176920 (3); {Schizophrenia, susceptibility to}, 181500 (2), Autosomal dominant
AKT2 164731 Diabetes mellitus, type II, 125853 (3), Autosomal dominant;
Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3), Autosomal dominant
ALDH1A2 603687 No OMIM phenotype
ALX3 606014 Frontonasal dysplasia 1, 136760 (3), Autosomal recessive
ANKRD1 609599 No OMIM phenotype
ANKRD11 611192 KBG syndrome, 148050 (3), Autosomal dominant
AP1B1 600157 No OMIM phenotype
APAF1 602233 No OMIM phenotype
AR 313700
Androgen insensitivity, 300068 (3), X-linked recessive; Androgen insensitivity, partial, with or without breast cancer, 312300 (3), X-linked
recessive; Hypospadias 1, X-linked, 300633 (3), X-linked recessive; {Prostate cancer, susceptibility to}, 176807 (3), Autosomal dominant; Spinal and bulbar muscular atrophy of Kennedy, 313200 (3), X-linked
recessive
ARHGAP31 610911 Adams-Oliver syndrome 1, 100300 (3), Autosomal dominant
ARID4A 180201 No OMIM phenotype
ARMC4 615408 Ciliary dyskinesia, primary, 23, 615451 (3), Autosomal recessive
ATP2A2 108740 Acrokeratosis verruciformis, 101900 (3), Autosomal dominant; Darier
disease, 124200 (3), Autosomal dominant
ATRX 300032
Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3); Alpha-thalassemia/mental retardation syndrome, 301040 (3), X-linked dominant;
Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3), X-linked recessive
AXIN1 603816 ?Caudal duplication anomaly, 607864 (3); Hepatocellular carcinoma,
somatic, 114550 (3)
BCOR 300485 Microphthalmia, syndromic 2, 300166 (3), X-linked dominant
BMP10 608748 No OMIM phenotype
BMP2 112261 Brachydactyly, type A2, 112600 (3), Autosomal dominant; {HFE
hemochromatosis, modifier of}, 235200 (3), Autosomal recessive
BMP4 112262 Microphthalmia, syndromic 6, 607932 (3), Autosomal dominant; Orofacial
cleft 11, 600625 (3)
BMP6 112266 No OMIM phenotype
BMP7 112267 No OMIM phenotype
BMPR1A 601299 Juvenile polyposis syndrome, infantile form, 174900 (3), Autosomal
dominant; Polyposis syndrome, hereditary mixed, 2, 610069 (3); Polyposis, juvenile intestinal, 174900 (3), Autosomal dominant
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BMPR2 600799
Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3), Autosomal dominant; Pulmonary hypertension, primary, fenfluramine
or dexfenfluramine-associated, 178600 (3), Autosomal dominant; Pulmonary venoocclusive disease 1, 265450 (3), Autosomal dominant
BRAF 164757
Adenocarcinoma of lung, somatic, 211980 (3); Cardiofaciocutaneous syndrome, 115150 (3), Autosomal dominant; Colorectal cancer, somatic (3); LEOPARD syndrome 3, 613707 (3), Autosomal dominant; Melanoma, malignant, somatic (3); Nonsmall cell lung cancer, somatic (3); Noonan
syndrome 7, 613706 (3), Autosomal dominant
BRIP1 605882 Breast cancer, early-onset, 114480 (3), Autosomal dominant; Fanconi
anemia, complementation group J, 609054 (3)
BVES 604577 ?Muscular dystrophy, limb-girdle, type 2X, 616812 (3), Autosomal
recessive
CASQ2 114251 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3),
Autosomal recessive
CAV1 601047
?Lipodystrophy, congenital generalized, type 3, 612526 (3); ?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, 606721 (3), Autosomal dominant; Pulmonary hypertension, primary, 3,
615343 (3), Autosomal dominant
CAV3 601253
Cardiomyopathy, familial hypertrophic, 192600 (3), Autosomal dominant; Creatine phosphokinase, elevated serum, 123320 (3), Autosomal
dominant; Long QT syndrome 9, 611818 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, type IC, 607801 (3), Autosomal recessive,
Autosomal dominant; Myopathy, distal, Tateyama type, 614321 (3), Autosomal dominant; Rippling muscle disease, 606072 (3), Autosomal
dominant
CBL 165360 ?Juvenile myelomonocytic leukemia, 607785 (3), Autosomal dominant,
Somatic mutation; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3), Autosomal dominant
CCDC103 614677 Ciliary dyskinesia, primary, 17, 614679 (3), Autosomal recessive
CCDC114 615038 Ciliary dyskinesia, primary, 20, 615067 (3), Autosomal recessive
CCDC151 615956 Ciliary dyskinesia, primary, 30, 616037 (3), Autosomal recessive
CCDC39 613798 Ciliary dyskinesia, primary, 14, 613807 (3)
CCDC40 613799 Ciliary dyskinesia, primary, 15, 613808 (3)
CCDC65 611088 Ciliary dyskinesia, primary, 27, 615504 (3), Autosomal recessive
CCNO 607752 Ciliary dyskinesia, primary, 29, 615872 (3), Autosomal recessive
CD96 606037 C syndrome, 211750 (3), Autosomal recessive
CDK13 603309 Congenital heart defects, dysmorphic facial features, and intellectual
developmental disorder, 617360 (3), Autosomal dominant
CDK4 123829 {Melanoma, cutaneous malignant, 3}, 609048 (3), Autosomal dominant
CDX2 600297 No OMIM phenotype
CENPF 600236 Stromme syndrome, 243605 (3), Autosomal recessive
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CFAP53 (CCDC11)
614759 Heterotaxy, visceral, 6, autosomal recessive, 614779 (3), Autosomal
recessive
CFC1 605194 Heterotaxy, visceral, 2, autosomal, 605376 (3), Autosomal dominant
CHAC2 617446 No OMIM phenotype
CHD4 603277 Sifrim-Hitz-Weiss syndrome, 617159 (3), Autosomal dominant
CHD7 608892 CHARGE syndrome, 214800 (3), Autosomal dominant; Hypogonadotropic
hypogonadism 5 with or without anosmia, 612370 (3), Autosomal dominant
CHD8 610528 {Autism, susceptibility to, 18}, 615032 (3), Autosomal dominant
CITED2 602937 Atrial septal defect 8, 614433 (3), Autosomal dominant; Ventricular septal
defect 2, 614431 (3), Autosomal dominant
COL1A1 120150
{Bone mineral density variation QTL, osteoporosis}, 166710 (3), Autosomal dominant; Caffey disease, 114000 (3), Autosomal dominant; Ehlers-Danlos
syndrome, classic, 130000 (3), Autosomal dominant; Ehlers-Danlos syndrome, type VIIA, 130060 (3), Autosomal dominant; Osteogenesis
imperfecta, type I, 166200 (3), Autosomal dominant; Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant; Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant; Osteogenesis
imperfecta, type IV, 166220 (3), Autosomal dominant
COL1A2 120160
Ehlers-Danlos syndrome, cardiac valvular form, 225320 (3), Autosomal recessive; Ehlers-Danlos syndrome, type VIIB, 130060 (3), Autosomal dominant; Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant; Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant; {Osteoporosis, postmenopausal}, 166710 (3), Autosomal
dominant
COL2A1 120140
Achondrogenesis, type II or hypochondrogenesis, 200610 (3), Autosomal dominant; Avascular necrosis of the femoral head, 608805 (3), Autosomal dominant; Czech dysplasia, 609162 (3), Autosomal dominant; Epiphyseal
dysplasia, multiple, with myopia and deafness, 132450 (3), Autosomal dominant; Kniest dysplasia, 156550 (3), Autosomal dominant; Legg-Calve-
Perthes disease, 150600 (3), Autosomal dominant; Osteoarthritis with mild chondrodysplasia, 604864 (3), Autosomal dominant; Platyspondylic skeletal dysplasia, Torrance type, 151210 (3), Autosomal dominant; SED
congenita, 183900 (3), Autosomal dominant; SMED Strudwick type, 184250 (3), Autosomal dominant; Spondyloepiphyseal dysplasia, Stanescu
type, 616583 (3), Autosomal dominant; Spondyloperipheral dysplasia, 271700 (3), Autosomal dominant; Stickler sydrome, type I, nonsyndromic
ocular, 609508 (3), Autosomal dominant; Stickler syndrome, type I, 108300 (3), Autosomal dominant; Vitreoretinopathy with phalangeal
epiphyseal dysplasia (3)
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COX7B 300885 Linear skin defects with multiple congenital anomalies 2, 300887 (3), X-
linked dominant
CREBBP 600140 Rubinstein-Taybi syndrome 1, 180849 (3), Autosomal dominant
CRELD1 607170 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3), Autosomal dominant; {Atrioventricular septal defect, susceptibility to,
2}, 606217 (3), Autosomal dominant
CRIP2 601183 No OMIM phenotype
CRYAB 123590
Cardiomyopathy, dilated, 1II, 615184 (3), Autosomal dominant; Cataract 16, multiple types, 613763 (3), Autosomal recessive, Autosomal dominant;
Myopathy, myofibrillar, 2, 608810 (3), Autosomal dominant; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869
(3), Autosomal recessive
CSNK1D 600864 Advanced sleep-phase syndrome, familial, 2, 615224 (3), Autosomal
dominant
CSRP1 123876 No OMIM phenotype
CSRP3 600824 ?Cardiomyopathy, dilated, 1M, 607482 (3); Cardiomyopathy,
hypertrophic, 12, 612124 (3), Autosomal dominant
CTNNB1 116806
Colorectal cancer, somatic, 114500 (3); Exudative vitreoretinopathy 7, 617572 (3), Autosomal dominant; Hepatocellular carcinoma, somatic,
114550 (3); Medulloblastoma, somatic, 155255 (3); Mental retardation, autosomal dominant 19, 615075 (3), Autosomal dominant; Ovarian
cancer, somatic, 167000 (3); Pilomatricoma, somatic, 132600 (3)
CYR61 602369 No OMIM phenotype
DDX3X 300160 Mental retardation, X-linked 102, 300958 (3), X-linked recessive, X-linked
dominant
DES 125660
Cardiomyopathy, dilated, 1I, 604765 (3); ?Muscular dystrophy, limb-girdle, type 2R, 615325 (3), Autosomal recessive; Myopathy, myofibrillar, 1,
601419 (3), Autosomal recessive, Autosomal dominant; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3), Autosomal dominant
DIAPH3 614567 Auditory neuropathy, autosomal dominant, 1, 609129 (3), Autosomal
dominant
DICER1 606241 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800
(3), Autosomal dominant; Pleuropulmonary blastoma, 601200 (3), Autosomal dominant; Rhabdomyosarcoma, embryonal, 2, 180295 (3)
DLGAP5 No OMIM gene No OMIM phenotype
DLL1 No OMIM gene No OMIM phenotype
DLL4 605185 Adams-Oliver syndrome 6, 616589 (3), Autosomal dominant
DNAAF1 613190 Ciliary dyskinesia, primary, 13, 613193 (3), Autosomal recessive
DNAAF2 612517 Ciliary dyskinesia, primary, 10, 612518 (3)
DNAAF3 614566 Ciliary dyskinesia, primary, 2, 606763 (3), Autosomal recessive
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DNAAF4 (DYX1C1)
608706 Ciliary dyskinesia, primary, 25, 615482 (3), Autosomal recessive; {Dyslexia,
susceptibility to, 1}, 127700 (3), Autosomal dominant
DNAAF5 (HEATR2)
614864 Ciliary dyskinesia, primary, 18, 614874 (3), Autosomal recessive
DNAH11 603339 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3),
Autosomal recessive
DNAH5 603335 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAI1 604366 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3),
Autosomal recessive
DNAI2 605483 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
DNAJB13 610263 Ciliary dyskinesia, primary, 34, 617091 (3), Autosomal recessive
DNAL1 610062 Ciliary dyskinesia, primary, 16, 614017 (3), Autosomal recessive
DRC1 615288 Ciliary dyskinesia, primary, 21, 615294 (3), Autosomal recessive
DSCAM 602523 No OMIM phenotype
DVL1 601365 Robinow syndrome, autosomal dominant 2, 616331 (3), Autosomal
dominant
DYRK1A 600855 Mental retardation, autosomal dominant 7, 614104 (3), Autosomal
dominant
E2F1 189971 No OMIM phenotype
ECE1 600423 ?Hirschsprung disease, cardiac defects, and autonomic dysfunction,
613870 (3), Autosomal dominant; {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial
EDNRA 131243 Mandibulofacial dysostosis with alopecia, 616367 (3), Autosomal
dominant; {Migraine, resistance to}, 157300 (3), Autosomal dominant
EFEMP2 604633 Cutis laxa, autosomal recessive, type IB, 614437 (3), Autosomal recessive
EFNB1 300035 Craniofrontonasal dysplasia, 304110 (3), X-linked dominant
EFTUD2 603892 Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3), Autosomal
dominant
EGFR 131550
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3), Autosomal recessive; ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3), Autosomal recessive; Nonsmall cell lung cancer, response to
tyrosine kinase inhibitor in, 211980 (3), Autosomal recessive; {Nonsmall cell lung cancer, susceptibility to}, 211980 (3), Autosomal recessive
EGR1 128990 No OMIM phenotype
EHMT1 607001 Kleefstra syndrome, 610253 (3), Autosomal dominant
ELN 130160 Cutis laxa, autosomal dominant, 123700 (3), Autosomal dominant;
Supravalvar aortic stenosis, 185500 (3), Autosomal dominant
ENG 131195 Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3), Autosomal
dominant
EOGT 614789 Adams-Oliver syndrome 4, 615297 (3), Autosomal recessive
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EP300 602700 Colorectal cancer, somatic, 114500 (3); Rubinstein-Taybi syndrome 2,
613684 (3), Autosomal dominant
EPHB2 600997 {Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3)
EPHB4 600011 {Hydrops fetalis, nonimmune, and/or atrial septal defect}, 617300 (3),
Autosomal dominant
ERBB2 164870 Adenocarcinoma of lung, somatic, 211980 (3); Gastric cancer, somatic,
613659 (3); Glioblastoma, somatic, 137800 (3); Ovarian cancer, somatic (3)
ERCC4 133520
Fanconi anemia, complementation group Q, 615272 (3), Autosomal recessive; ?XFE progeroid syndrome, 610965 (3); Xeroderma
pigmentosum, group F, 278760 (3), Autosomal recessive; Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3), Autosomal
recessive
ESR2 601663 No OMIM phenotype
ETS1 164720 No OMIM phenotype
EVC 604831 Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive; ?Weyers
acrofacial dysostosis, 193530 (3), Autosomal dominant
EVC2 607261 Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive; Weyers
acrofacial dysostosis, 193530 (3), Autosomal dominant
EWSR1 133450 Ewing sarcoma, 612219 (3); Neuroepithelioma, 612219 (3)
EZH2 601573 Weaver syndrome, 277590 (3), Autosomal dominant
F2R 187930 No OMIM phenotype
FABP3 134651 No OMIM phenotype
FADD 602457 Infections, recurrent, with encephalopathy, hepatic dysfunction, and
cardiovascular malformations, 613759 (3), Autosomal recessive
FANCA 607139 Fanconi anemia, complementation group A, 227650 (3), Autosomal
recessive
FANCB 300515 Fanconi anemia, complementation group B, 300514 (3)
FANCC 613899 Fanconi anemia, complementation group C, 227645 (3), Autosomal
recessive
FANCD2 613984 Fanconi anemia, complementation group D2, 227646 (3), Autosomal
recessive
FANCE 613976 Fanconi anemia, complementation group E, 600901 (3), Autosomal
recessive
FANCF 613897 Fanconi anemia, complementation group F, 603467 (3)
FANCG 602956 Fanconi anemia, complementation group G, 614082 (3)
FANCI 611360 Fanconi anemia, complementation group I, 609053 (3)
FANCL 608111 Fanconi anemia, complementation group L, 614083 (3), Autosomal
recessive
FBLN1 135820 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal
synostoses, 608180 (4), Autosomal dominant
FBLN7 611551 No OMIM phenotype
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FBN1 134797
Acromicric dysplasia, 102370 (3), Autosomal dominant; Ectopia lentis, familial, 129600 (3), Autosomal dominant; Geleophysic dysplasia 2,
614185 (3), Autosomal dominant; MASS syndrome, 604308 (3); Marfan lipodystrophy syndrome, 616914 (3), Autosomal dominant; Marfan
syndrome, 154700 (3), Autosomal dominant; Stiff skin syndrome, 184900 (3), Autosomal dominant; Weill-Marchesani syndrome 2, dominant,
608328 (3), Autosomal dominant
FBN2 612570 Contractural arachnodactyly, congenital, 121050 (3), Autosomal
dominant; Macular degeneration, early-onset, 616118 (3), Autosomal dominant
FGF10 602115 Aplasia of lacrimal and salivary glands, 180920 (3), Autosomal dominant;
LADD syndrome, 149730 (3), Autosomal dominant
FGF8 600483 Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3),
Autosomal dominant
FGFR1 136350
Encephalocraniocutaneous lipomatosis, 613001 (3), Somatic mosaicism; Hartsfield syndrome, 615465 (3), Autosomal dominant; Hypogonadotropic
hypogonadism 2 with or without anosmia, 147950 (3), Autosomal dominant; Jackson-Weiss syndrome, 123150 (3), Autosomal dominant;
Osteoglophonic dysplasia, 166250 (3), Autosomal dominant; Pfeiffer syndrome, 101600 (3), Autosomal dominant; Trigonocephaly 1, 190440
(3), Autosomal dominant
FGFR2 176943
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3), Autosomal recessive; Apert syndrome,
101200 (3), Autosomal dominant; Beare-Stevenson cutis gyrata syndrome, 123790 (3), Autosomal dominant; Bent bone dysplasia syndrome, 614592
(3), Autosomal dominant; Craniofacial-skeletal-dermatologic dysplasia, 101600 (3), Autosomal dominant; Craniosynostosis, nonspecific (3);
Crouzon syndrome, 123500 (3), Autosomal dominant; Gastric cancer, somatic, 613659 (3); Jackson-Weiss syndrome, 123150 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant; Pfeiffer
syndrome, 101600 (3), Autosomal dominant; Saethre-Chotzen syndrome, 101400 (3), Autosomal dominant; Scaphocephaly and Axenfeld-Rieger
anomaly (3); Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
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FGFR3 134934
Achondroplasia, 100800 (3), Autosomal dominant; Bladder cancer, somatic, 109800 (3); CATSHL syndrome, 610474 (3), Autosomal recessive,
Autosomal dominant; Cervical cancer, somatic, 603956 (3); Colorectal cancer, somatic, 114500 (3); Crouzon syndrome with acanthosis nigricans,
612247 (3), Autosomal dominant; Hypochondroplasia, 146000 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant; Muenke syndrome, 602849 (3), Autosomal dominant; Nevus, epidermal,
somatic, 162900 (3); SADDAN, 616482 (3), Autosomal dominant; Spermatocytic seminoma, somatic, 273300 (3); Thanatophoric dysplasia, type I, 187600 (3), Autosomal dominant; Thanatophoric dysplasia, type II,
187601 (3), Autosomal dominant
FHL2 602633 No OMIM phenotype
FIBP 608296 Thauvin-Robinet-Faivre syndrome, 617107 (3), Autosomal recessive
FLI1 193067 Bleeding disorder, platelet-type, 21, 617443 (3)
FLNA 300017
Cardiac valvular dysplasia, X-linked, 314400 (3), X-linked recessive; Congenital short bowel syndrome, 300048 (3), X-linked recessive; FG
syndrome 2, 300321 (3); Frontometaphyseal dysplasia 1, 305620 (3), X-linked recessive; Heterotopia, periventricular, 300049 (3), X-linked
dominant; Intestinal pseudoobstruction, neuronal, 300048 (3), X-linked recessive; Melnick-Needles syndrome, 309350 (3), X-linked dominant;
Otopalatodigital syndrome, type I, 311300 (3), X-linked dominant; Otopalatodigital syndrome, type II, 304120 (3), X-linked dominant;
Terminal osseous dysplasia, 300244 (3)
FLNC 102565
Cardiomyopathy, familial hypertrophic, 26 (3); Cardiomyopathy, familial restrictive 5, 617047 (3), Autosomal dominant; Myopathy, distal, 4,
614065 (3), Autosomal dominant; Myopathy, myofibrillar, 5, 609524 (3), Autosomal dominant
FLT1 165070 No OMIM phenotype
FLT4 136352 Hemangioma, capillary infantile, somatic, 602089 (3); Lymphedema,
hereditary, IA, 153100 (3), Autosomal dominant
FN1 135600 Glomerulopathy with fibronectin deposits 2, 601894 (3), Autosomal
dominant; Plasma fibronectin deficiency, 614101 (1), Autosomal dominant
FOXC1 601090 Anterior segment dysgenesis 3, multiple subtypes, 601631 (3), Autosomal
dominant; Axenfeld-Rieger syndrome, type 3, 602482 (3), Autosomal dominant
FOXC2 602402 Lymphedema-distichiasis syndrome, 153400 (3), Autosomal dominant;
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3), Autosomal dominant
FOXH1 603621 No OMIM phenotype
FOXK2 147685 No OMIM phenotype
FOXL1 603252 No OMIM phenotype
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FOXL2 605597
Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3), Autosomal dominant; Blepharophimosis, epicanthus inversus, and ptosis,
type 2, 110100 (3), Autosomal dominant; Premature ovarian failure 3, 608996 (3), Autosomal dominant
FOXO1 136533 Rhabdomyosarcoma, alveolar, 268220 (3), Autosomal recessive
FOXP1 605515 Mental retardation with language impairment and with or without autistic
features, 613670 (3), Autosomal dominant
FSCN2 607643 Retinitis pigmentosa 30, 607921 (3)
G6PC3 611045 Dursun syndrome, 612541 (3), Autosomal recessive; Neutropenia, severe
congenital 4, autosomal recessive, 612541 (3), Autosomal recessive
GAS8 605178 Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive
GATA2 137295
Emberger syndrome, 614038 (3), Autosomal dominant; Immunodeficiency 21, 614172 (3), Autosomal dominant; {Leukemia, acute myeloid,
susceptibility to}, 601626 (3), Autosomal dominant; {Myelodysplastic syndrome, susceptibility to}, 614286 (3)
GATA4 600576
Atrial septal defect 2, 607941 (3), Autosomal dominant; Atrioventricular septal defect 4, 614430 (3), Autosomal dominant; ?Testicular anomalies
with or without congenital heart disease, 615542 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant;
Ventricular septal defect 1, 614429 (3), Autosomal dominant
GATA5 611496 No OMIM phenotype
GATA6 601656
Atrial septal defect 9, 614475 (3), Autosomal dominant; Atrioventricular septal defect 5, 614474 (3), Autosomal dominant; Pancreatic agenesis and
congenital heart defects, 600001 (3), Autosomal dominant; Persistent truncus arteriosus, 217095 (3); Tetralogy of Fallot, 187500 (3), Autosomal
dominant
GATAD2B 614998 Mental retardation, autosomal dominant 18, 615074 (3), Autosomal
dominant
GDF1 602880
Double-outlet right ventricle, 217095 (3); Right atrial isomerism, 208530 (3), Autosomal recessive; Tetralogy of Fallot, 187500 (3), Autosomal
dominant; Transposition of great arteries, dextro-looped 3, 613854 (3), Autosomal dominant
GDF11 603936 No OMIM phenotype
GDF5 601146
?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3), Autosomal recessive; Brachydactyly, type A1, C, 615072 (3), Autosomal recessive, Autosomal dominant; Brachydactyly, type A2, 112600 (3), Autosomal dominant; Brachydactyly, type C, 113100 (3), Autosomal dominant;
Chondrodysplasia, Grebe type, 200700 (3), Autosomal recessive; Du Pan syndrome, 228900 (3), Autosomal recessive; Multiple synostoses
syndrome 2, 610017 (3), Autosomal dominant; {Osteoarthritis-5}, 612400 (3); Symphalangism, proximal, 1B, 615298 (3)
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GDNF 600837
Central hypoventilation syndrome, 209880 (3), Autosomal dominant; {Hirschsprung disease, susceptibility to, 3}, 613711 (3), Autosomal
dominant; {Pheochromocytoma, modifier of}, 171300 (3), Autosomal dominant
GJA1 121014
Atrioventricular septal defect 3, 600309 (3), Autosomal dominant; Craniometaphyseal dysplasia, autosomal recessive, 218400 (3), Autosomal
recessive; Erythrokeratodermia variabilis et progressiva 3, 617525 (3); Hypoplastic left heart syndrome 1, 241550 (3), Autosomal recessive;
Oculodentodigital dysplasia, 164200 (3), Autosomal dominant; Oculodentodigital dysplasia, autosomal recessive, 257850 (3), Autosomal recessive; Palmoplantar keratoderma with congenital alopecia, 104100 (3), Autosomal dominant; Syndactyly, type III, 186100 (3), Autosomal
dominant
GJA5 121013 Atrial fibrillation, familial, 11, 614049 (3), Autosomal dominant; Atrial
standstill, digenic (GJA5/SCN5A), 108770 (3), Autosomal dominant
GJA9 611923 No OMIM phenotype
GLB1 611458
GM1-gangliosidosis, type I, 230500 (3), Autosomal recessive; GM1-gangliosidosis, type II, 230600 (3), Autosomal recessive; GM1-
gangliosidosis, type III, 230650 (3), Autosomal recessive; Mucopolysaccharidosis type IVB (Morquio), 253010 (3), Autosomal
recessive
GLI2 165230 Culler-Jones syndrome, 615849 (3), Autosomal dominant; Holoprosencephaly 9, 610829 (3), Autosomal dominant
GLI3 165240
Greig cephalopolysyndactyly syndrome, 175700 (3), Autosomal dominant; {Hypothalamic hamartomas, somatic}, 241800 (3); Pallister-Hall syndrome,
146510 (3), Autosomal dominant; Polydactyly, postaxial, types A1 and B, 174200 (3), Autosomal dominant; Polydactyly, preaxial, type IV, 174700
(3), Autosomal dominant
GPC3 300037 Simpson-Golabi-Behmel syndrome, type 1, 312870 (3), X-linked recessive;
Wilms tumor, somatic, 194070 (3)
GPC5 602446 No OMIM phenotype
GPC6 604404 Omodysplasia 1, 258315 (3), Autosomal recessive
GRK5 600870 No OMIM phenotype
GTF2I 601679 No OMIM phenotype
GTF2IRD1 604318 No OMIM phenotype
HAND1 No OMIM gene No OMIM phenotype
HAND2 602407 No OMIM phenotype
HDAC8 300269 Cornelia de Lange syndrome 5, 300882 (3), X-linked dominant
HES4 608060 No OMIM phenotype
HEY2 604674 No OMIM phenotype
HIF1A 603348 No OMIM phenotype
HMGB2 163906 No OMIM phenotype
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HNF1A 142410
Diabetes mellitus, insulin-dependent, 20, 612520 (3); {Diabetes mellitus, insulin-dependent}, 222100 (3), Autosomal recessive; {Diabetes mellitus,
noninsulin-dependent, 2}, 125853 (3), Autosomal dominant; Hepatic adenoma, somatic, 142330 (3); MODY, type III, 600496 (3), Autosomal
dominant; Renal cell carcinoma, 144700 (3)
HNF4A 600281
{Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3), Autosomal dominant; MODY, type I, 125850 (3),
Autosomal dominant
HOXA1 142955 Athabaskan brainstem dysgenesis syndrome, 601536 (3); Bosley-Salih-
Alorainy syndrome, 601536 (3)
HOXB2 142967 No OMIM phenotype
HRAS 190020
{Bladder cancer, somatic}, 109800 (3); Congenital myopathy with excess of muscle spindles, 218040 (3), Autosomal dominant, Isolated cases; Costello
syndrome, 218040 (3), Autosomal dominant, Isolated cases; {Nevus sebaceous or woolly hair nevus, somatic}, 162900 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); {Spitz nevus or
nevus spilus, somatic}, 137550 (3); {Thyroid carcinoma, follicular, somatic}, 188470 (3)
HSPB1 602195 Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3), Autosomal dominant; Neuropathy, distal hereditary motor, type IIB, 608634 (3),
Autosomal dominant
HSPB8 608014 Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3), Autosomal dominant; Neuropathy, distal hereditary motor, type IIA, 158590 (3),
Autosomal dominant
HSPG2 142461 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3),
Autosomal recessive; Schwartz-Jampel syndrome, type 1, 255800 (3), Autosomal recessive
HYDIN 610812 Ciliary dyskinesia, primary, 5, 608647 (3), Autosomal recessive
ID2 600386 No OMIM phenotype
IGF1R 147370 Insulin-like growth factor I, resistance to, 270450 (3), Autosomal recessive,
Autosomal dominant
IGFBP4 146733 No OMIM phenotype
IKBKB 603258 Immunodeficiency 15, 615592 (3), Autosomal recessive
ILK 602366 No OMIM phenotype
INHBA 147290 No OMIM phenotype
INHBC 601233 No OMIM phenotype
INPP5D 601582 No OMIM phenotype
INSR 147670
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3); Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3), Autosomal
dominant; Leprechaunism, 246200 (3), Autosomal recessive; Rabson-Mendenhall syndrome, 262190 (3), Autosomal recessive
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IRS1 147545 {Coronary artery disease, susceptibility to} (3); {Diabetes mellitus,
noninsulin-dependent}, 125853 (3), Autosomal dominant
IRX4 606199 No OMIM phenotype
ISL1 600366 No OMIM phenotype
ITGAV 193210 No OMIM phenotype
ITGB1 135630 No OMIM phenotype
ITGB3 173470
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3), Autosomal dominant; Glanzmann thrombasthenia, 273800 (3), Autosomal recessive; {Myocardial infarction, susceptibility to}, 608446 (3); Purpura,
posttransfusion (3); Thrombocytopenia, neonatal alloimmune (3)
ITGB4 147557
Epidermolysis bullosa of hands and feet, 131800 (3), Autosomal dominant; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, with pyloric atresia, 226730
(3), Autosomal recessive
JAG1 601920 Alagille syndrome 1, 118450 (3), Autosomal dominant; ?Deafness,
congenital heart defects, and posterior embryotoxon (3); Tetralogy of Fallot, 187500 (3), Autosomal dominant
JAM3 606871 Hemorrhagic destruction of the brain, subependymal calcification, and
cataracts, 613730 (3), Autosomal recessive
JUN 165160 No OMIM phenotype
KANSL1 612452 Koolen-De Vries syndrome, 610443 (3), Autosomal dominant
KAT6A 601408 Mental retardation, autosomal dominant 32, 616268 (3), Autosomal
dominant
KAT6B 605880 Genitopatellar syndrome, 606170 (3), Autosomal dominant; SBBYSS
syndrome, 603736 (3)
KDM3B 609373 No OMIM phenotype
KDM5A 180202 No OMIM phenotype
KDM5B 605393 No OMIM phenotype
KDM6A 300128 Kabuki syndrome 2, 300867 (3), X-linked dominant
KDR 191306 Hemangioma, capillary infantile, somatic, 602089 (3); {Hemangioma, capillary infantile, susceptibility to}, 602089 (3), Autosomal dominant
KIT 164920
Gastrointestinal stromal tumor, familial, 606764 (3), Autosomal dominant, Isolated cases; Germ cell tumors, somatic, 273300 (3); Leukemia, acute
myeloid, 601626 (3), Autosomal dominant; Mast cell disease, 154800 (3), Autosomal dominant; Piebaldism, 172800 (3), Autosomal dominant
KMT2D 602113 Kabuki syndrome 1, 147920 (3), Autosomal dominant
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KRAS 190070
Bladder cancer, somatic, 109800 (3); Breast cancer, somatic, 114480 (3); Cardiofaciocutaneous syndrome 2, 615278 (3); Gastric cancer, somatic, 137215 (3); Leukemia, acute myeloid, 601626 (3), Autosomal dominant;
Lung cancer, somatic, 211980 (3); Noonan syndrome 3, 609942 (3); Pancreatic carcinoma, somatic, 260350 (3); RAS-associated autoimmune
leukoproliferative disorder, 614470 (3), Autosomal dominant; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
KREMEN1 609898 Ectodermal dysplasia 13, hair/tooth type, 617392 (3), Autosomal recessive
LAMA2 156225 Muscular dystrophy, congenital merosin-deficient, 607855 (3), Autosomal
recessive; Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3), Autosomal recessive
LAMA5 601033 No OMIM phenotype
LAMC1 150290 No OMIM phenotype
LBR 600024 Greenberg skeletal dysplasia, 215140 (3), Autosomal recessive; Pelger-Huet anomaly, 169400 (3), Autosomal dominant; ?Reynolds syndrome,
613471 (3), Autosomal dominant
LEFTY1 603037 No OMIM phenotype
LEFTY2 601877 Left-right axis malformations (3)
LHX3 600577 Pituitary hormone deficiency, combined, 3, 221750 (3), Autosomal
recessive
LMNA 150330
Cardiomyopathy, dilated, 1A, 115200 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2B1, 605588 (3), Autosomal recessive; Emery-
Dreifuss muscular dystrophy 2, AD, 181350 (3), Autosomal dominant; Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3), Autosomal
recessive; Heart-hand syndrome, Slovenian type, 610140 (3), Autosomal dominant; Hutchinson-Gilford progeria, 176670 (3), Autosomal recessive, Autosomal dominant; Lipodystrophy, familial partial, type 2, 151660 (3),
Autosomal dominant; Malouf syndrome, 212112 (3), Autosomal dominant; Mandibuloacral dysplasia, 248370 (3), Autosomal recessive;
Muscular dystrophy, congenital, 613205 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, type 1B, 159001 (3), Autosomal dominant; Restrictive dermopathy, lethal, 275210 (3), Autosomal
recessive
LMX1B 602575 Nail-patella syndrome, 161200 (3), Autosomal dominant
LRP2 600073 Donnai-Barrow syndrome, 222448 (3), Autosomal recessive
LRRC6 614930 Ciliary dyskinesia, primary, 19, 614935 (3), Autosomal recessive
LTBP1 150390 No OMIM phenotype
LTBP3 602090 Dental anomalies and short stature, 601216 (3), Autosomal recessive
LZTR1 600574 Noonan syndrome 10, 616564 (3), Autosomal dominant;
{Schwannomatosis-2, susceptibility to}, 615670 (3), Autosomal dominant
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MAFG 602020 No OMIM phenotype
MAP2K1 176872 Cardiofaciocutaneous syndrome 3, 615279 (3)
MAP2K2 601263 Cardiofaciocutaneous syndrome 4, 615280 (3)
MAPK14 600289 No OMIM phenotype
MCTP2 616297 No OMIM phenotype
MECOM 165215 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738
(3), Autosomal dominant
MED13L 608771 Mental retardation and distinctive facial features with or without cardiac
defects, 616789 (3), Autosomal dominant; Transposition of the great arteries, dextro-looped 1, 608808 (3), Autosomal dominant
MEF2C 600662 Chromosome 5q14.3 deletion syndrome, 613443 (4), Autosomal
dominant; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 (3), Autosomal dominant
MEGF8 604267 Carpenter syndrome 2, 614976 (3), Autosomal recessive
MESP1 608689 No OMIM phenotype
MET 164860
?Deafness, autosomal recessive 97, 616705 (3), Autosomal recessive; Hepatocellular carcinoma, childhood type, somatic, 114550 (3);
{Osteofibrous dysplasia, susceptibility to}, 607278 (3), Autosomal dominant; Renal cell carcinoma, papillary, 1, familial and somatic, 605074
(3)
METTL3 612472 No OMIM phenotype
MGP 154870 Keutel syndrome, 245150 (3), Autosomal recessive
MID1 300552 Opitz GBBB syndrome, type I, 300000 (3), X-linked recessive
MITF 156845
COMMAD syndrome, 617306 (3), Autosomal recessive; {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3); Tietz albinism-deafness syndrome, 103500 (3), Autosomal dominant; Waardenburg syndrome, type 2A, 193510 (3), Autosomal dominant; Waardenburg syndrome/ocular albinism, digenic, 103470 (3), Autosomal dominant
MMP2 120360 Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3), Autosomal
recessive
MMP21 608416 Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive
MSX1 142983 Ectodermal dysplasia 3, Witkop type, 189500 (3), Autosomal dominant;
Orofacial cleft 5, 608874 (3); Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3), Autosomal dominant
MTHFD1 172460 {Abruptio placentae, susceptibility to} (3); {Spina bifida, folate-sensitive,
susceptibility to}, 601634 (3), Autosomal recessive
MTHFR 607093
Homocystinuria due to MTHFR deficiency, 236250 (3), Autosomal recessive; {Neural tube defects, susceptibility to}, 601634 (3), Autosomal
recessive; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant; {Thromboembolism, susceptibility to}, 188050 (3), Autosomal
dominant; {Vascular disease, susceptibility to} (3)
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MTRR 602568 Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3), Autosomal recessive; {Neural tube defects, folate-sensitive, susceptibility to}, 601634
(3), Autosomal recessive
MYBPC3 600958 Cardiomyopathy, dilated, 1MM, 615396 (3), Autosomal dominant;
Cardiomyopathy, hypertrophic, 4, 115197 (3), Autosomal dominant; Left ventricular noncompaction 10, 615396 (3), Autosomal dominant
MYC 190080 Burkitt lymphoma, 113970 (3), Isolated cases
MYH10 160776 No OMIM phenotype
MYH11 160745 Aortic aneurysm, familial thoracic 4, 132900 (3), Autosomal dominant
MYH6 160710 Atrial septal defect 3, 614089 (3); Cardiomyopathy, dilated, 1EE, 613252 (3); Cardiomyopathy, hypertrophic, 14, 613251 (3), Autosomal dominant;
{Sick sinus syndrome 3}, 614090 (3)
MYH7 160760
Cardiomyopathy, dilated, 1S, 613426 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 1, 192600 (3), Autosomal dominant; Laing
distal myopathy, 160500 (3), Autosomal dominant; Left ventricular noncompaction 5, 613426 (3), Autosomal dominant; Myopathy, myosin
storage, autosomal dominant, 608358 (3), Autosomal dominant; Myopathy, myosin storage, autosomal recessive, 255160 (3), Autosomal
recessive; Scapuloperoneal syndrome, myopathic type, 181430 (3), Autosomal dominant
MYH9 160775
Deafness, autosomal dominant 17, 603622 (3), Autosomal dominant; Epstein syndrome, 153650 (3), Autosomal dominant; Fechtner syndrome,
153640 (3), Autosomal dominant; Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3), Autosomal dominant;
May-Hegglin anomaly, 155100 (3), Autosomal dominant; Sebastian syndrome, 605249 (3), Autosomal dominant
MYL2 160781 Cardiomyopathy, hypertrophic, 10, 608758 (3), Autosomal dominant
MYL3 160790 Cardiomyopathy, hypertrophic, 8, 608751 (3), Autosomal dominant
MYL7 613993 No OMIM phenotype
MYOCD 606127 No OMIM phenotype
MYOM1 603508 No OMIM phenotype
MYOZ2 605602 Cardiomyopathy, hypertrophic, 16, 613838 (3), Autosomal dominant
NF1 613113
Leukemia, juvenile myelomonocytic, 607785 (3), Autosomal dominant, Somatic mutation; Neurofibromatosis, familial spinal, 162210 (3),
Autosomal dominant; Neurofibromatosis, type 1, 162200 (3), Autosomal dominant; Neurofibromatosis-Noonan syndrome, 601321 (3), Autosomal
dominant; Watson syndrome, 193520 (3), Autosomal dominant
NFATC1 600489 No OMIM phenotype
NFIX 164005 Marshall-Smith syndrome, 602535 (3), Autosomal dominant; Sotos
syndrome 2, 614753 (3), Autosomal dominant
NFKB1 164011 Immunodeficiency, common variable, 12, 616576 (3), Autosomal
dominant
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NID2 605399 No OMIM phenotype
NIPBL 608667 Cornelia de Lange syndrome 1, 122470 (3), Autosomal dominant
NKX2-1 600635
Chorea, hereditary benign, 118700 (3), Autosomal dominant; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3), Autosomal dominant; {Thyroid cancer, nonmedullary, 1},
188550 (3), Autosomal dominant
NKX2-5 600584
Atrial septal defect 7, with or without AV conduction defects, 108900 (3), Autosomal dominant; Conotruncal heart malformations, variable, 217095 (3); Hypoplastic left heart syndrome 2, 614435 (3), Autosomal dominant;
Hypothyroidism, congenital nongoitrous, 5, 225250 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant;
Ventricular septal defect 3, 614432 (3), Autosomal dominant
NKX2-6 611770 Conotruncal heart malformations, 217095 (3); Persistent truncus
arteriosus, 217095 (3)
NME8 607421 Ciliary dyskinesia, primary, 6, 610852 (3), Autosomal recessive
NNMT 600008 Homocysteine plasma level, 600008 (2)
NODAL 601265 Heterotaxy, visceral, 5, 270100 (3), Autosomal dominant
NONO 300084 Mental retardation, X-linked, syndromic 34, 300967 (3), X-linked
NOS3 163729
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3), Autosomal dominant; {Coronary artery spasm 1, susceptibility to} (3); {Hypertension,
pregnancy-induced}, 189800 (3), Autosomal dominant; {Hypertension, susceptibility to}, 145500 (3), Multifactorial; {Ischemic stroke,
susceptibility to}, 601367 (3), Multifactorial; {Placental abruption} (3)
NOTCH1 190198 Adams-Oliver syndrome 5, 616028 (3), Autosomal dominant; Aortic valve
disease 1, 109730 (3), Autosomal dominant
NOTCH2 600275 Alagille syndrome 2, 610205 (3), Autosomal dominant; Hajdu-Cheney
syndrome, 102500 (3), Autosomal dominant
NOTCH3 600276
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3), Autosomal dominant; Lateral meningocele syndrome,
130720 (3), Autosomal dominant; ?Myofibromatosis, infantile 2, 615293 (3), Autosomal dominant
NPHP3 608002 Meckel syndrome 7, 267010 (3), Autosomal recessive; Nephronophthisis 3, 604387 (3), Autosomal recessive; Renal-hepatic-pancreatic dysplasia 1,
208540 (3), Autosomal recessive
NPHP4 607215 Nephronophthisis 4, 606966 (3), Autosomal recessive; Senior-Loken
syndrome 4, 606996 (3), Autosomal recessive
NPPA 108780 Atrial fibrillation, familial, 6, 612201 (3), Autosomal dominant; Atrial
standstill 2, 615745 (3), Autosomal recessive
NR2F2 107773 Congenital heart defects, multiple types, 4, 615779 (3), Autosomal
dominant
NR4A2 601828 No OMIM phenotype
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NRAS 164790
Colorectal cancer, somatic, 114500 (3); Epidermal nevus, somatic, 162900 (3); Melanocytic nevus syndrome, congenital, somatic, 137550 (3);
Neurocutaneous melanosis, somatic, 249400 (3); Noonan syndrome 6, 613224 (3), Autosomal dominant; ?RAS-associated autoimmune
lymphoproliferative syndrome type IV, somatic, 614470 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
(3); Thyroid carcinoma, follicular, somatic, 188470 (3)
NRP1 602069 No OMIM phenotype
NRP2 602070 No OMIM phenotype
NSD1 606681 Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant; Leukemia, acute myeloid, 601626 (1), Autosomal dominant; Sotos
syndrome 1, 117550 (3), Autosomal dominant
OTX2 600037
Microphthalmia, syndromic 5, 610125 (3), Autosomal dominant; Pituitary hormone deficiency, combined, 6, 613986 (3), Autosomal dominant; Retinal dystrophy, early-onset, with or without pituitary dysfunction,
610125 (3), Autosomal dominant
PACS1 607492 Schuurs-Hoeijmakers syndrome, 615009 (3), Autosomal dominant
PAX3 606597
Craniofacial-deafness-hand syndrome, 122880 (3), Autosomal dominant; Rhabdomyosarcoma 2, alveolar, 268220 (3), Autosomal recessive; Waardenburg syndrome, type 1, 193500 (3), Autosomal dominant; Waardenburg syndrome, type 3, 148820 (3), Autosomal recessive,
Autosomal dominant
PCSK5 600488 No OMIM phenotype
PDGFC 608452 No OMIM phenotype
PDGFRA 173490 Gastrointestinal stromal tumor, somatic, 606764 (3); Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3), Isolated cases,
Somatic mutation
PDGFRB 173410
Basal ganglia calcification, idiopathic, 4, 615007 (3), Autosomal dominant; Kosaki overgrowth syndrome, 616592 (3), Autosomal dominant;
Myeloproliferative disorder with eosinophilia, 131440 (4), Autosomal dominant; Myofibromatosis, infantile, 1, 228550 (3), Autosomal dominant;
Premature aging syndrome, Penttinen type, 601812 (3), Autosomal dominant
PDX1 600733 {Diabetes mellitus, type II, susceptibility to}, 125853 (3), Autosomal
dominant; MODY, type IV, 606392 (3); Pancreatic agenesis 1, 260370 (3), Autosomal recessive
PIGA 311770 Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3), X-linked recessive; Paroxysmal nocturnal hemoglobinuria, somatic,
300818 (3)
PIGL 605947 CHIME syndrome, 280000 (3), Autosomal recessive
PIGN 606097 Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080
(3), Autosomal recessive
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PIGT 610272 Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398
(3), Autosomal recessive; ?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3), Autosomal dominant, Somatic mutation
PITX2 601542 Anterior segment dysgenesis 4, 137600 (3), Autosomal dominant;
Axenfeld-Rieger syndrome, type 1, 180500 (3), Autosomal dominant; Ring dermoid of cornea, 180550 (3), Autosomal dominant
PKD1L1 609721 Heterotaxy, visceral, 8, autosomal, 617205 (3), Autosomal recessive
PLAGL1 603044 {Diabetes mellitus, transient neonatal}, 601410 (1)
PLAT 173370 Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 (1); Thrombophilia, familial, due to decreased release of PLAT, 612348 (1)
POU5F1 164177 No OMIM phenotype
PPARG 601487
Carotid intimal medial thickness 1, 609338 (3); {Diabetes, type 2}, 125853 (3), Autosomal dominant; Insulin resistance, severe, digenic, 604367 (3), Autosomal dominant; Lipodystrophy, familial partial, type 3, 604367 (3),
Autosomal dominant; [Obesity, resistance to] (3); Obesity, severe, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial
PPARGC1A 604517 No OMIM phenotype
PPP3CA 114105 No OMIM phenotype
PRKACA 601639 Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (3)
PRKD1 605435 Congenital heart defects and ectodermal dysplasia, 617364 (3), Autosomal
dominant
PROX1 601546 No OMIM phenotype
PRRX1 167420 Agnathia-otocephaly complex, 202650 (3), Autosomal recessive,
Autosomal dominant
PSEN1 104311
Acne inversa, familial, 3, 613737 (3), Autosomal dominant; Alzheimer disease, type 3, 607822 (3), Autosomal dominant; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3), Autosomal dominant; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3), Autosomal dominant; Cardiomyopathy, dilated, 1U, 613694
(3), Autosomal dominant; Dementia, frontotemporal, 600274 (3), Autosomal dominant; Pick disease, 172700 (3), Autosomal dominant,
Isolated cases
PSEN2 600759 Alzheimer disease-4, 606889 (3), Autosomal dominant; Cardiomyopathy,
dilated, 1V, 613697 (3), Autosomal dominant
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PTEN 601728
Bannayan-Riley-Ruvalcaba syndrome, 153480 (3), Autosomal dominant; Cowden syndrome 1, 158350 (3), Autosomal dominant; Endometrial carcinoma, somatic, 608089 (3); {Glioma susceptibility 2}, 613028 (3);
Lhermitte-Duclos syndrome, 158350 (3), Autosomal dominant; Macrocephaly/autism syndrome, 605309 (3), Autosomal dominant;
Malignant melanoma, somatic, 155600 (3); {Meningioma}, 607174 (3), Autosomal dominant; PTEN hamartoma tumor syndrome (3); {Prostate cancer, somatic}, 176807 (3); Squamous cell carcinoma, head and neck,
somatic, 275355 (3); VATER association with macrocephaly and ventriculomegaly, 276950 (3), Autosomal recessive
PTK2 600758 No OMIM phenotype
PTP4A3 606449 No OMIM phenotype
PTPN11 176876
LEOPARD syndrome 1, 151100 (3), Autosomal dominant; Leukemia, juvenile myelomonocytic, somatic, 607785 (3); Metachondromatosis, 156250 (3), Autosomal dominant; Noonan syndrome 1, 163950 (3),
Autosomal dominant
PUF60 604819 Verheij syndrome, 615583 (3), Autosomal dominant
RAB23 606144 Carpenter syndrome, 201000 (3), Autosomal recessive
RAD21 606462 Cornelia de Lange syndrome 4, 614701 (3), Autosomal dominant
RAD51C 602774 {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3); Fanconi
anemia, complementation group O, 613390 (3), Autosomal recessive
RAF1 164760 Cardiomyopathy, dilated, 1NN, 615916 (3), Autosomal dominant;
LEOPARD syndrome 2, 611554 (3); Noonan syndrome 5, 611553 (3)
RAI1 607642 Smith-Magenis syndrome, 182290 (3), Autosomal dominant, Isolated
cases
RAI2 300217 No OMIM phenotype
RARB 180220 Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive,
Autosomal dominant
RARG 180190 No OMIM phenotype
RB1 614041
Bladder cancer, somatic, 109800 (3); Osteosarcoma, somatic, 259500 (3); Retinoblastoma, 180200 (3), Autosomal dominant, Somatic mutation; Retinoblastoma, trilateral, 180200 (3), Autosomal dominant, Somatic
mutation; Small cell cancer of the lung, somatic, 182280 (3)
RBBP7 300825 No OMIM phenotype
RBL2 180203 No OMIM phenotype
RBM10 300080 TARP syndrome, 311900 (3), X-linked recessive
RBM8A 605313 Thrombocytopenia-absent radius syndrome, 274000 (3), Autosomal
recessive
RELA 164014 No OMIM phenotype
RERE 605226 Neurodevelopmental disorder with or without anomalies of the brain, eye,
or heart, 616975 (3), Autosomal dominant
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RET 164761
Central hypoventilation syndrome, congenital, 209880 (3), Autosomal dominant; {Hirschsprung disease, susceptibility to, 1}, 142623 (3), Autosomal dominant; Medullary thyroid carcinoma, 155240 (3),
Autosomal dominant; Multiple endocrine neoplasia IIA, 171400 (3), Autosomal dominant; Multiple endocrine neoplasia IIB, 162300 (3), Autosomal dominant; Pheochromocytoma, 171300 (3), Autosomal
dominant
RGS19 605071 No OMIM phenotype
RIT1 609591 Noonan syndrome 8, 615355 (3), Autosomal dominant
RNF20 607699 No OMIM phenotype
ROR2 602337 Brachydactyly, type B1, 113000 (3), Autosomal dominant; Robinow syndrome, autosomal recessive, 268310 (3), Autosomal recessive
RPGR 312610
Cone-rod dystrophy, X-linked, 1, 304020 (3), X-linked; Macular degeneration, X-linked atrophic, 300834 (3), X-linked recessive; Retinitis
pigmentosa 3, 300029 (3); Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)
RPL11 604175 Diamond-Blackfan anemia 7, 612562 (3), Autosomal dominant
RPL15 604174 ?Diamond-Blackfan anemia 12, 615550 (3), Autosomal dominant
RPL26 603704 ?Diamond-Blackfan anemia 11, 614900 (3), Autosomal dominant
RPL35A 180468 Diamond-Blackfan anemia 5, 612528 (3), Autosomal dominant
RPL5 603634 Diamond-Blackfan anemia 6, 612561 (3), Autosomal dominant
RPS10 603632 Diamond-Blackfan anemia 9, 613308 (3), Autosomal dominant
RPS17 180472 Diamond-Blackfan anemia 4, 612527 (3), Autosomal dominant
RPS19 603474 Diamond-Blackfan anemia 1, 105650 (3), Autosomal dominant
RPS24 602412 Diamond-blackfan anemia 3, 610629 (3), Autosomal dominant
RPS26 603701 Diamond-Blackfan anemia 10, 613309 (3), Autosomal dominant
RPS28 603685 Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 (3),
Autosomal dominant
RPS29 603633 Diamond-Blackfan anemia 13, 615909 (3), Autosomal dominant
RPS7 603658 Diamond-Blackfan anemia 8, 612563 (3), Autosomal dominant
RSPH1 609314 Ciliary dyskinesia, primary, 24, 615481 (3), Autosomal recessive
RSPH3 615876 Ciliary dyskinesia, primary, 32, 616481 (3), Autosomal recessive
RSPH4A 612647 Ciliary dyskinesia, primary, 11, 612649 (3)
RSPH9 612648 Ciliary dyskinesia, primary, 12, 612650 (3)
RYR2 180902 Arrhythmogenic right ventricular dysplasia 2, 600996 (3), Autosomal
dominant; Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3), Autosomal dominant
SALL1 602218 Townes-Brocks branchiootorenal-like syndrome, 107480 (3), Autosomal dominant; Townes-Brocks syndrome 1, 107480 (3), Autosomal dominant
SALL4 607343 Duane-radial ray syndrome, 607323 (3), Autosomal dominant; IVIC
syndrome, 147750 (3), Autosomal dominant
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SCN5A 600163
Atrial fibrillation, familial, 10, 614022 (3), Autosomal dominant; Brugada syndrome 1, 601144 (3), Autosomal dominant; Cardiomyopathy, dilated,
1E, 601154 (3), Autosomal dominant; Heart block, nonprogressive, 113900 (3), Autosomal dominant; Heart block, progressive, type IA, 113900 (3),
Autosomal dominant; Long QT syndrome-3, 603830 (3), Autosomal dominant; Sick sinus syndrome 1, 608567 (3), Autosomal recessive;
{Sudden infant death syndrome, susceptibility to}, 272120 (3), Autosomal recessive; Ventricular fibrillation, familial, 1, 603829 (3)
SESN1 606103 No OMIM phenotype
SF3B4 605593 Acrofacial dysostosis 1, Nager type, 154400 (3), Autosomal dominant
SGCA 600119 Muscular dystrophy, limb-girdle, type 2D, 608099 (3), Autosomal recessive
SH3PXD2B 613293 Frank-ter Haar syndrome, 249420 (3), Autosomal recessive
SHH 600725
Holoprosencephaly 3, 142945 (3), Autosomal dominant; Microphthalmia with coloboma 5, 611638 (3), Autosomal dominant; Schizencephaly,
269160 (3); Single median maxillary central incisor, 147250 (3), Autosomal dominant
SHOC2 602775 Noonan-like syndrome with loose anagen hair, 607721 (3), Autosomal
dominant
SKI 164780 Shprintzen-Goldberg syndrome, 182212 (3), Autosomal dominant
SLC19A1 600424 No OMIM phenotype
SLC25A4 103220
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3), Autosomal dominant; Mitochondrial DNA depletion syndrome
12B (cardiomyopathic type) AR, 615418 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions,
autosomal dominant 2, 609283 (3), Autosomal dominant
SLC2A10 606145 Arterial tortuosity syndrome, 208050 (3), Autosomal recessive
SLX4 613278 Fanconi anemia, complementation group P, 613951 (3), Autosomal
recessive
SMAD2 601366 No OMIM phenotype
SMAD3 603109 Loeys-Dietz syndrome 3, 613795 (3), Autosomal dominant
SMAD4 600993
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3), Autosomal dominant; Myhre syndrome, 139210 (3),
Autosomal dominant; Pancreatic cancer, somatic, 260350 (3); Polyposis, juvenile intestinal, 174900 (3), Autosomal dominant
SMAD6 602931 Aortic valve disease 2, 614823 (3), Autosomal dominant; {Craniosynostosis
7, susceptibility to}, 617439 (3), Autosomal dominant
SMARCE1 603111 Coffin-Siris syndrome 5, 616938 (3), Autosomal dominant; {Meningioma,
familial, susceptibility to}, 607174 (3), Autosomal dominant
SMC1A 300040 Cornelia de Lange syndrome 2, 300590 (3), X-linked dominant
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SMC3 606062 Cornelia de Lange syndrome 3, 610759 (3), Autosomal dominant
SMG9 613176 Heart and brain malformation syndrome, 616920 (3), Autosomal recessive
SOS1 182530 ?Fibromatosis, gingival, 1, 135300 (3), Autosomal dominant; Noonan
syndrome 4, 610733 (3), Autosomal dominant
SOS2 601247 Noonan syndrome 9, 616559 (3), Autosomal dominant
SOX2 184429 Microphthalmia, syndromic 3, 206900 (3), Autosomal dominant; Optic
nerve hypoplasia and abnormalities of the central nervous system, 206900 (3), Autosomal dominant
SOX4 184430 No OMIM phenotype
SP1 189906 No OMIM phenotype
SPAG1 603395 Ciliary dyskinesia, primary, 28, 615505 (3), Autosomal recessive
SPATC1L 612412 No OMIM phenotype
SPECC1L 614140 ?Facial clefting, oblique, 1, 600251 (3), Autosomal dominant; Opitz GBBB
syndrome, type II, 145410 (3), Autosomal dominant
SRCAP 611421 Floating-Harbor syndrome, 136140 (3), Autosomal dominant
SRF 600589 No OMIM phenotype
STAT3 102582 Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3),
Autosomal dominant; Hyper-IgE recurrent infection syndrome, 147060 (3), Autosomal dominant
STRA6 610745 Microphthalmia, isolated, with coloboma 8, 601186 (3), Autosomal
recessive; Microphthalmia, syndromic 9, 601186 (3), Autosomal recessive
SUZ12 606245 No OMIM phenotype
TAB2 605101 Congenital heart defects, nonsyndromic, 2, 614980 (3), Autosomal
dominant
TBX1 602054
Conotruncal anomaly face syndrome, 217095 (3); DiGeorge syndrome, 188400 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3),
Autosomal dominant; Velocardiofacial syndrome, 192430 (3), Autosomal dominant
TBX2 600747 No OMIM phenotype
TBX20 606061 Atrial septal defect 4, 611363 (3)
TBX3 601621 Ulnar-mammary syndrome, 181450 (3), Autosomal dominant
TBX5 601620 Holt-Oram syndrome, 142900 (3), Autosomal dominant
TBX6 602427 Spondylocostal dysostosis 5, 122600 (3), Autosomal recessive, Autosomal
dominant
TCAP 604488 Cardiomyopathy, hypertrophic, 25, 607487 (3), Autosomal dominant;
Muscular dystrophy, limb-girdle, type 2G, 601954 (3), Autosomal recessive
TCF21 603306 No OMIM phenotype
TCF3 147141 Agammaglobulinemia 8, autosomal dominant, 616941 (3), Autosomal
dominant
TCN2 613441 Transcobalamin II deficiency, 275350 (3), Autosomal recessive
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TDGF1 187395 Forebrain defects (3)
TEAD1 189967 Sveinsson chorioretinal atrophy, 108985 (3), Autosomal dominant
TEK 600221 Glaucoma 3, primary congenital, E, 617272 (3), Autosomal dominant; Venous malformations, multiple cutaneous and mucosal, 600195 (3),
Autosomal dominant
TFAP2A 107580 Branchiooculofacial syndrome, 113620 (3), Autosomal dominant
TFAP2B 601601 Char syndrome, 169100 (3), Autosomal dominant; Patent ductus
arteriosus 2, 617035 (3), Autosomal dominant
TFAP2C 601602 No OMIM phenotype
TGFB1 190180 Camurati-Engelmann disease, 131300 (3), Autosomal dominant; {Cystic
fibrosis lung disease, modifier of}, 219700 (3), Autosomal recessive
TGFB2 190220 Loeys-Dietz syndrome 4, 614816 (3), Autosomal dominant
TGFB3 190230 Arrhythmogenic right ventricular dysplasia 1, 107970 (3), Autosomal dominant; Loeys-Dietz syndrome 5, 615582 (3), Autosomal dominant
TGFBR1 190181 Loeys-Dietz syndrome 1, 609192 (3), Autosomal dominant; {Multiple self-healing squamous epithelioma, susceptibility to}, 132800 (3), Autosomal
dominant
TGFBR2 190182 Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3); Esophageal
cancer, somatic, 133239 (3); Loeys-Dietz syndrome 2, 610168 (3), Autosomal dominant
TGIF1 602630 Holoprosencephaly 4, 142946 (3), Autosomal dominant
THBS1 188060 No OMIM phenotype
THBS4 No OMIM gene No OMIM phenotype
THOC5 612733 No OMIM phenotype
THRB 190160
Thyroid hormone resistance, 188570 (3), Autosomal dominant; Thyroid hormone resistance, autosomal recessive, 274300 (3), Autosomal
recessive; Thyroid hormone resistance, selective pituitary, 145650 (3), Autosomal dominant
TKT 606781 Short stature, developmental delay, and congenital heart defects, 617044
(3), Autosomal recessive
TLL1 606742 Atrial septal defect 6, 613087 (3), Autosomal dominant
TNFRSF11A 603499 Osteolysis, familial expansile, 174810 (3), Autosomal dominant;
Osteopetrosis, autosomal recessive 7, 612301 (3); {Paget disease of bone 2, early-onset}, 602080 (3), Autosomal dominant
TNFRSF1A 191190 {Multiple sclerosis, susceptibility to, 5}, 614810 (3); Periodic fever, familial,
142680 (3), Autosomal dominant
TNNC1 191040 Cardiomyopathy, dilated, 1Z, 611879 (3); Cardiomyopathy, hypertrophic,
13, 613243 (3), Autosomal dominant
TNNI3 191044
Cardiomyopathy, dilated, 1FF, 613286 (3); ?Cardiomyopathy, dilated, 2A, 611880 (3), Autosomal recessive; Cardiomyopathy, familial restrictive, 1,
115210 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 7, 613690 (3), Autosomal dominant
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TNNT2 191045
Cardiomyopathy, dilated, 1D, 601494 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 3, 612422 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 2, 115195 (3), Autosomal dominant; Left
ventricular noncompaction 6, 601494 (3), Autosomal dominant
TNR 601995 No OMIM phenotype
TP53 191170
Adrenal cortical carcinoma, 202300 (3), Autosomal recessive; {Basal cell carcinoma 7}, 614740 (3); Breast cancer, 114480 (3), Autosomal dominant;
Choroid plexus papilloma, 260500 (3), Autosomal dominant; Colorectal cancer, 114500 (3), Autosomal dominant; {Glioma susceptibility 1}, 137800 (3), Autosomal dominant, Somatic mutation; Hepatocellular
carcinoma, 114550 (3), Somatic mutation; Li-Fraumeni syndrome, 151623 (3), Autosomal dominant; Nasopharyngeal carcinoma, 607107 (3);
Osteosarcoma, 259500 (3), Autosomal recessive; Pancreatic cancer, 260350 (3), Autosomal dominant, Somatic mutation, Multifactorial
TP73 601990 ?Neuroblastoma (1)
TPM1 191010 Cardiomyopathy, dilated, 1Y, 611878 (3), Autosomal dominant;
Cardiomyopathy, hypertrophic, 3, 115196 (3), Autosomal dominant; Left ventricular noncompaction 9, 611878 (3), Autosomal dominant
TRPM2 603749 No OMIM phenotype
TSR2 300945 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946
(3), X-linked recessive
TTC25 617095 Ciliary dyskinesia, primary, 35, 617092 (3), Autosomal recessive
TTN 188840
Cardiomyopathy, dilated, 1G, 604145 (3); Cardiomyopathy, familial hypertrophic, 9, 613765 (3), Autosomal dominant; Muscular dystrophy,
limb-girdle, type 2J, 608807 (3), Autosomal recessive; Myopathy, proximal, with early respiratory muscle involvement, 603689 (3); Salih myopathy,
611705 (3), Autosomal recessive; Tibial muscular dystrophy, tardive, 600334 (3), Autosomal dominant
TWIST1 601622
Craniosynostosis 1, 123100 (3), Autosomal dominant; Robinow-Sorauf syndrome, 180750 (3), Autosomal dominant; Saethre-Chotzen syndrome, 101400 (3), Autosomal dominant; Saethre-Chotzen syndrome with eyelid
anomalies, 101400 (3), Autosomal dominant
UBE2B 179095 ?Male infertility (1)
UBE2T 610538 Fanconi anemia, complementation group T, 616435 (3), Autosomal
recessive
USP44 610993 No OMIM phenotype
USP9X 300072 Mental retardation, X-linked 99, 300919 (3), X-linked recessive; Mental retardation, X-linked 99, syndromic, female-restricted, 300968 (3), X-
linked dominant
VCAN 118661 Wagner syndrome 1, 143200 (3), Autosomal dominant
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VDR 601769 ?Osteoporosis, involutional, 166710 (1), Autosomal dominant; Rickets,
vitamin D-resistant, type IIA, 277440 (3), Autosomal recessive
VEGFA 192240 {Microvascular complications of diabetes 1}, 603933 (3)
VEGFC 601528 Lymphedema, hereditary, ID, 615907 (3), Autosomal dominant
WASHC5 (KIAA0196)
610657 Ritscher-Schinzel syndrome 1, 220210 (3), Autosomal recessive; Spastic
paraplegia 8, autosomal dominant, 603563 (3), Autosomal dominant
WDR5 No OMIM gene No OMIM phenotype
WNT11 603699 No OMIM phenotype
WT1 607102
Denys-Drash syndrome, 194080 (3), Autosomal dominant, Somatic mutation; Frasier syndrome, 136680 (3), Autosomal dominant, Somatic
mutation; Meacham syndrome, 608978 (3); Mesothelioma, somatic, 156240 (3); Nephrotic syndrome, type 4, 256370 (3), Autosomal
dominant; Wilms tumor, type 1, 194070 (3), Autosomal dominant, Somatic mutation
YY1 600013 Gabriele-de Vries syndrome, 617557 (3), Autosomal dominant
ZEB2 605802 Mowat-Wilson syndrome, 235730 (3), Autosomal dominant
ZFHX3 104155 {Prostate cancer, susceptibility to, somatic}, 176807 (3)
ZFPM2 603693 Diaphragmatic hernia 3, 610187 (3); Tetralogy of Fallot, 187500 (3), Autosomal dominant; 46XY sex reversal 9, 616067 (3), Autosomal
dominant
ZIC3 300265 Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3), X-linked recessive; Heterotaxy, visceral, 1, X-linked, 306955 (3), X-linked recessive;
VACTERL association, X-linked, 314390 (3), X-linked recessive
ZMYND10 607070 Ciliary dyskinesia, primary, 22, 615444 (3), Autosomal recessive
Gene symbols used are according to the HGNC guidelines. For some genes a previously HGNC-approved symbol is in brackets.
Each Phenotype is followed by its MIM number, phenotype mapping key and inheritance pattern.
OMIM release used for OMIM disease identifiers and descriptions: June 06, 2017
Possible phenotype mapping keys
(1) the disorder is placed on the map based on its association with a gene, but the underlying defect is not known
(2) the disorder has been placed on the map by linkage; no mutation has been found
(3) the molecular basis for the disorder is known; a mutation has been found in the gene
(4) a contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype
Brackets, "[ ]", indicate "nondiseases," mainly genetic variations that lead to apparently abnormal laboratory test values (e.g., dysalbuminemic euthyroidal hyperthyroxinemia). Braces, "{ }", indicate mutations that contribute to susceptibility to multifactorial disorders (e.g., diabetes, asthma) or to susceptibility to infection (e.g., malaria).
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A question mark, "?", before the phenotype name indicates that the relationship between the phenotype and gene is provisional. More details about this relationship are provided in the comment field of the map and in the gene and phenotype OMIM entries.